南京医科大学学报(英文版)
南京醫科大學學報(英文版)
남경의과대학학보(영문판)
JOURNAL OF NANJING MEDICAL UNIVERSITY
2001年
2期
101-104
,共4页
姚娟%丁新生%陈克连%程虹%邓晓萱%沈鸣九%王颖
姚娟%丁新生%陳剋連%程虹%鄧曉萱%瀋鳴九%王穎
요연%정신생%진극련%정홍%산효훤%침명구%왕영
Objective To understand the deletion in the survival motor neuron gene (SMN) of childhood-onset spinal muscular atrophy (SMA) in Chinese, and the value of diagnosis of SMA using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)method. Methods Deletions of SMN gene of exon 7 and 8 in 10 cases of presumed SMA, and 20 normal controls from 6 families and 30 unrelated controls were performed by PCR-RFLP analysis. Results Deletions of SMN gene detected in 9 of 10 (90%) cases of presumed SMA . No deletions of SMN in the telomere were found in the other members of families and controls.Conclusion PCR-RFLP is a sensitive, specific and simple method in diagnosis of SMA.
